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Disease Profile
Factor V deficiency
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 1 000 000
Age of onset
All ages
ICD-10
D68.2
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Categories
Blood Diseases; Congenital and Genetic Diseases
Summary
Factor V deficiency is an
This condition should not be confused with Factor V Leiden thrombophilia, a genetic
Symptoms
- Bleeding into the skin
- Excessive bruising
- Nosebleeds
- Bleeding of the gums
- Excessive menstrual bleeding
- Prolonged or excessive loss of blood with surgery, trauma, or following childbirth
- Umbilical stump bleeding
- In severe cases, bleeding into the skull, lungs, or gastrointestinal tract
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
30%-79% of people have these symptoms | ||
Epistaxis |
Bloody nose
Frequent nosebleeds
Nose bleed
Nose bleeding
Nosebleed
[ more ] |
0000421 |
Joint hemorrhage |
Bleeding within a joint
Hemarthrosis
[ more ] |
0005261 |
5%-29% of people have these symptoms | ||
Bruising |
Bruise easily
Easy bruisability
Easy bruising
[ more ] |
0000978 |
Gingival bleeding |
Bleeding gums
|
0000225 |
Hematuria |
Blood in urine
|
0000790 |
Menorrhagia |
Abnormally heavy bleeding during menstruation
|
0000132 |
Oral cavity bleeding |
Bleeding from mouth
|
0030140 |
Persistent bleeding after trauma |
Excessive bleeding after minor trauma
Frequent bleeding with trauma
Prolonged bleeding after minor trauma
[ more ] |
0001934 |
Post-partum hemorrhage |
Bleeding post-delivery
|
0011891 |
Prolonged bleeding after dental extraction | 0006298 | |
Prolonged bleeding after surgery |
Excessive bleeding during surgery
Protracted bleeding after surgery
[ more ] |
0004846 |
Prolonged bleeding following circumcision | 0030137 | |
Spontaneous hematomas | 0007420 | |
1%-4% of people have these symptoms | ||
Hematochezia |
Rectal bleeding
|
0002573 |
Hemoptysis |
Coughing up blood
|
0002105 |
Intracranial hemorrhage |
Bleeding within the skull
|
0002170 |
Metrorrhagia |
Abnormal uterus bleeding
|
0100608 |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Prolonged bleeding time | 0003010 | |
Prolonged partial thromboplastin time | 0003645 | |
Prolonged prothrombin time | 0008151 | |
Prolonged whole-blood clotting time | 0005542 | |
Reduced coagulation factor V activity | 0003225 |
Cause
Treatment
Management Guidelines
- The National Hemophilia Foundation Web site posts the guidelines for management of pregnancy and delivery of women with bleeding disorders and
carriers of hemophilia A and B. Click on the link to view the guidelines.
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
Differential diagnoses include factor VIII deficiency, and combined deficiency of factor V and factor VIII (see these terms).
Visit the Orphanet disease page for more information.
|
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Canadian Hemophilia Society
301-666 Sherbrooke Street West
Montreal, QC H3A IE7
Canada
Toll-free: 1-800-668-2686
Telephone: +1-514-848-0503
Fax: +1-514-848-9661
E-mail: [email protected]
Website: https://www.hemophilia.ca -
National Hemophilia Foundation
7 Penn Plaza, Suite 1204
New York, NY 10001
Toll-free: 1-800-42-HANDI
Telephone: +1-212-328-3700
Fax: +1-212-328-3777
E-mail: [email protected]
Website: https://www.hemophilia.org/
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- Genetics Home Reference contains information on Factor V deficiency. This website is maintained by the National Library of Medicine.
- The National Hemophilia Foundation has an information page on factor V deficiency.
In-Depth Information
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Factor V deficiency. Click on the link to view a sample search on this topic.
References
- Gersten T. Factor V deficiency. MedlinePlus. February 1, 2016; https://www.nlm.nih.gov/medlineplus/ency/article/000550.htm.
- Factor V deficiency. Genetics Home Reference (GHR). May 2013; https://ghr.nlm.nih.gov/condition/factor-v-deficiency.
- Factor V. National Hemophilia Foundation. https://www.hemophilia.org/Bleeding-Disorders/Types-of-Bleeding-Disorders/Other-Factor-Deficiencies/Factor-V. Accessed 4/17/2017.
- F5 gene. Genetics Home Reference (GHR). May 2013; https://ghr.nlm.nih.gov/gene/F5.
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